Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3280T>C (p.Tyr1094His)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(2)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
2
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3280T>C (p.Tyr1094His)
Variation ID: 438923 Accession: VCV000438923.5
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43092251 (GRCh38) [ NCBI UCSC ] 17: 41244268 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Sep 30, 2017 Apr 1, 2023 Mar 23, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3280T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1094His missense NM_001407571.1:c.3067T>C NP_001394500.1:p.Tyr1023His missense NM_001407581.1:c.3280T>C NP_001394510.1:p.Tyr1094His missense NM_001407582.1:c.3280T>C NP_001394511.1:p.Tyr1094His missense NM_001407583.1:c.3280T>C NP_001394512.1:p.Tyr1094His missense NM_001407585.1:c.3280T>C NP_001394514.1:p.Tyr1094His missense NM_001407587.1:c.3277T>C NP_001394516.1:p.Tyr1093His missense NM_001407590.1:c.3277T>C NP_001394519.1:p.Tyr1093His missense NM_001407591.1:c.3277T>C NP_001394520.1:p.Tyr1093His missense NM_001407593.1:c.3280T>C NP_001394522.1:p.Tyr1094His missense NM_001407594.1:c.3280T>C NP_001394523.1:p.Tyr1094His missense NM_001407596.1:c.3280T>C NP_001394525.1:p.Tyr1094His missense NM_001407597.1:c.3280T>C NP_001394526.1:p.Tyr1094His missense NM_001407598.1:c.3280T>C NP_001394527.1:p.Tyr1094His missense NM_001407602.1:c.3280T>C NP_001394531.1:p.Tyr1094His missense NM_001407603.1:c.3280T>C NP_001394532.1:p.Tyr1094His missense NM_001407605.1:c.3280T>C NP_001394534.1:p.Tyr1094His missense NM_001407610.1:c.3277T>C NP_001394539.1:p.Tyr1093His missense NM_001407611.1:c.3277T>C NP_001394540.1:p.Tyr1093His missense NM_001407612.1:c.3277T>C NP_001394541.1:p.Tyr1093His missense NM_001407613.1:c.3277T>C NP_001394542.1:p.Tyr1093His missense NM_001407614.1:c.3277T>C NP_001394543.1:p.Tyr1093His missense NM_001407615.1:c.3277T>C NP_001394544.1:p.Tyr1093His missense NM_001407616.1:c.3280T>C NP_001394545.1:p.Tyr1094His missense NM_001407617.1:c.3280T>C NP_001394546.1:p.Tyr1094His missense NM_001407618.1:c.3280T>C NP_001394547.1:p.Tyr1094His missense NM_001407619.1:c.3280T>C NP_001394548.1:p.Tyr1094His missense NM_001407620.1:c.3280T>C NP_001394549.1:p.Tyr1094His missense NM_001407621.1:c.3280T>C NP_001394550.1:p.Tyr1094His missense NM_001407622.1:c.3280T>C NP_001394551.1:p.Tyr1094His missense NM_001407623.1:c.3280T>C NP_001394552.1:p.Tyr1094His missense NM_001407624.1:c.3280T>C NP_001394553.1:p.Tyr1094His missense NM_001407625.1:c.3280T>C NP_001394554.1:p.Tyr1094His missense NM_001407626.1:c.3280T>C NP_001394555.1:p.Tyr1094His missense NM_001407627.1:c.3277T>C NP_001394556.1:p.Tyr1093His missense NM_001407628.1:c.3277T>C NP_001394557.1:p.Tyr1093His missense NM_001407629.1:c.3277T>C NP_001394558.1:p.Tyr1093His missense NM_001407630.1:c.3277T>C NP_001394559.1:p.Tyr1093His missense NM_001407631.1:c.3277T>C NP_001394560.1:p.Tyr1093His missense NM_001407632.1:c.3277T>C NP_001394561.1:p.Tyr1093His missense NM_001407633.1:c.3277T>C NP_001394562.1:p.Tyr1093His missense NM_001407634.1:c.3277T>C NP_001394563.1:p.Tyr1093His missense NM_001407635.1:c.3277T>C NP_001394564.1:p.Tyr1093His missense NM_001407636.1:c.3277T>C NP_001394565.1:p.Tyr1093His missense NM_001407637.1:c.3277T>C NP_001394566.1:p.Tyr1093His missense NM_001407638.1:c.3277T>C NP_001394567.1:p.Tyr1093His missense NM_001407639.1:c.3280T>C NP_001394568.1:p.Tyr1094His missense NM_001407640.1:c.3280T>C NP_001394569.1:p.Tyr1094His missense NM_001407641.1:c.3280T>C NP_001394570.1:p.Tyr1094His missense NM_001407642.1:c.3280T>C NP_001394571.1:p.Tyr1094His missense NM_001407644.1:c.3277T>C NP_001394573.1:p.Tyr1093His missense NM_001407645.1:c.3277T>C NP_001394574.1:p.Tyr1093His missense NM_001407646.1:c.3271T>C NP_001394575.1:p.Tyr1091His missense NM_001407647.1:c.3271T>C NP_001394576.1:p.Tyr1091His missense NM_001407648.1:c.3157T>C NP_001394577.1:p.Tyr1053His missense NM_001407649.1:c.3154T>C NP_001394578.1:p.Tyr1052His missense NM_001407652.1:c.3280T>C NP_001394581.1:p.Tyr1094His missense NM_001407653.1:c.3202T>C NP_001394582.1:p.Tyr1068His missense NM_001407654.1:c.3202T>C NP_001394583.1:p.Tyr1068His missense NM_001407655.1:c.3202T>C NP_001394584.1:p.Tyr1068His missense NM_001407656.1:c.3202T>C NP_001394585.1:p.Tyr1068His missense NM_001407657.1:c.3202T>C NP_001394586.1:p.Tyr1068His missense NM_001407658.1:c.3202T>C NP_001394587.1:p.Tyr1068His missense NM_001407659.1:c.3199T>C NP_001394588.1:p.Tyr1067His missense NM_001407660.1:c.3199T>C NP_001394589.1:p.Tyr1067His missense NM_001407661.1:c.3199T>C NP_001394590.1:p.Tyr1067His missense NM_001407662.1:c.3199T>C NP_001394591.1:p.Tyr1067His missense NM_001407663.1:c.3202T>C NP_001394592.1:p.Tyr1068His missense NM_001407664.1:c.3157T>C NP_001394593.1:p.Tyr1053His missense NM_001407665.1:c.3157T>C NP_001394594.1:p.Tyr1053His missense NM_001407666.1:c.3157T>C NP_001394595.1:p.Tyr1053His missense NM_001407667.1:c.3157T>C NP_001394596.1:p.Tyr1053His missense NM_001407668.1:c.3157T>C NP_001394597.1:p.Tyr1053His missense NM_001407669.1:c.3157T>C NP_001394598.1:p.Tyr1053His missense NM_001407670.1:c.3154T>C NP_001394599.1:p.Tyr1052His missense NM_001407671.1:c.3154T>C NP_001394600.1:p.Tyr1052His missense NM_001407672.1:c.3154T>C NP_001394601.1:p.Tyr1052His missense NM_001407673.1:c.3154T>C NP_001394602.1:p.Tyr1052His missense NM_001407674.1:c.3157T>C NP_001394603.1:p.Tyr1053His missense NM_001407675.1:c.3157T>C NP_001394604.1:p.Tyr1053His missense NM_001407676.1:c.3157T>C NP_001394605.1:p.Tyr1053His missense NM_001407677.1:c.3157T>C NP_001394606.1:p.Tyr1053His missense NM_001407678.1:c.3157T>C NP_001394607.1:p.Tyr1053His missense NM_001407679.1:c.3157T>C NP_001394608.1:p.Tyr1053His missense NM_001407680.1:c.3157T>C NP_001394609.1:p.Tyr1053His missense NM_001407681.1:c.3157T>C NP_001394610.1:p.Tyr1053His missense NM_001407682.1:c.3157T>C NP_001394611.1:p.Tyr1053His missense NM_001407683.1:c.3157T>C NP_001394612.1:p.Tyr1053His missense NM_001407684.1:c.3280T>C NP_001394613.1:p.Tyr1094His missense NM_001407685.1:c.3154T>C NP_001394614.1:p.Tyr1052His missense NM_001407686.1:c.3154T>C NP_001394615.1:p.Tyr1052His missense NM_001407687.1:c.3154T>C NP_001394616.1:p.Tyr1052His missense NM_001407688.1:c.3154T>C NP_001394617.1:p.Tyr1052His missense NM_001407689.1:c.3154T>C NP_001394618.1:p.Tyr1052His missense NM_001407690.1:c.3154T>C NP_001394619.1:p.Tyr1052His missense NM_001407691.1:c.3154T>C NP_001394620.1:p.Tyr1052His missense NM_001407692.1:c.3139T>C NP_001394621.1:p.Tyr1047His missense NM_001407694.1:c.3139T>C NP_001394623.1:p.Tyr1047His missense NM_001407695.1:c.3139T>C NP_001394624.1:p.Tyr1047His missense NM_001407696.1:c.3139T>C NP_001394625.1:p.Tyr1047His missense NM_001407697.1:c.3139T>C NP_001394626.1:p.Tyr1047His missense NM_001407698.1:c.3139T>C NP_001394627.1:p.Tyr1047His missense NM_001407724.1:c.3139T>C NP_001394653.1:p.Tyr1047His missense NM_001407725.1:c.3139T>C NP_001394654.1:p.Tyr1047His missense NM_001407726.1:c.3139T>C NP_001394655.1:p.Tyr1047His missense NM_001407727.1:c.3139T>C NP_001394656.1:p.Tyr1047His missense NM_001407728.1:c.3139T>C NP_001394657.1:p.Tyr1047His missense NM_001407729.1:c.3139T>C NP_001394658.1:p.Tyr1047His missense NM_001407730.1:c.3139T>C NP_001394659.1:p.Tyr1047His missense NM_001407731.1:c.3139T>C NP_001394660.1:p.Tyr1047His missense NM_001407732.1:c.3139T>C NP_001394661.1:p.Tyr1047His missense NM_001407733.1:c.3139T>C NP_001394662.1:p.Tyr1047His missense NM_001407734.1:c.3139T>C NP_001394663.1:p.Tyr1047His missense NM_001407735.1:c.3139T>C NP_001394664.1:p.Tyr1047His missense NM_001407736.1:c.3139T>C NP_001394665.1:p.Tyr1047His missense NM_001407737.1:c.3139T>C NP_001394666.1:p.Tyr1047His missense NM_001407738.1:c.3139T>C NP_001394667.1:p.Tyr1047His missense NM_001407739.1:c.3139T>C NP_001394668.1:p.Tyr1047His missense NM_001407740.1:c.3136T>C NP_001394669.1:p.Tyr1046His missense NM_001407741.1:c.3136T>C NP_001394670.1:p.Tyr1046His missense NM_001407742.1:c.3136T>C NP_001394671.1:p.Tyr1046His missense NM_001407743.1:c.3136T>C NP_001394672.1:p.Tyr1046His missense NM_001407744.1:c.3136T>C NP_001394673.1:p.Tyr1046His missense NM_001407745.1:c.3136T>C NP_001394674.1:p.Tyr1046His missense NM_001407746.1:c.3136T>C NP_001394675.1:p.Tyr1046His missense NM_001407747.1:c.3136T>C NP_001394676.1:p.Tyr1046His missense NM_001407748.1:c.3136T>C NP_001394677.1:p.Tyr1046His missense NM_001407749.1:c.3136T>C NP_001394678.1:p.Tyr1046His missense NM_001407750.1:c.3139T>C NP_001394679.1:p.Tyr1047His missense NM_001407751.1:c.3139T>C NP_001394680.1:p.Tyr1047His missense NM_001407752.1:c.3139T>C NP_001394681.1:p.Tyr1047His missense NM_001407838.1:c.3136T>C NP_001394767.1:p.Tyr1046His missense NM_001407839.1:c.3136T>C NP_001394768.1:p.Tyr1046His missense NM_001407841.1:c.3136T>C NP_001394770.1:p.Tyr1046His missense NM_001407842.1:c.3136T>C NP_001394771.1:p.Tyr1046His missense NM_001407843.1:c.3136T>C NP_001394772.1:p.Tyr1046His missense NM_001407844.1:c.3136T>C NP_001394773.1:p.Tyr1046His missense NM_001407845.1:c.3136T>C NP_001394774.1:p.Tyr1046His missense NM_001407846.1:c.3136T>C NP_001394775.1:p.Tyr1046His missense NM_001407847.1:c.3136T>C NP_001394776.1:p.Tyr1046His missense NM_001407848.1:c.3136T>C NP_001394777.1:p.Tyr1046His missense NM_001407849.1:c.3136T>C NP_001394778.1:p.Tyr1046His missense NM_001407850.1:c.3139T>C NP_001394779.1:p.Tyr1047His missense NM_001407851.1:c.3139T>C NP_001394780.1:p.Tyr1047His missense NM_001407852.1:c.3139T>C NP_001394781.1:p.Tyr1047His missense NM_001407853.1:c.3067T>C NP_001394782.1:p.Tyr1023His missense NM_001407854.1:c.3280T>C NP_001394783.1:p.Tyr1094His missense NM_001407858.1:c.3280T>C NP_001394787.1:p.Tyr1094His missense NM_001407859.1:c.3280T>C NP_001394788.1:p.Tyr1094His missense NM_001407860.1:c.3277T>C NP_001394789.1:p.Tyr1093His missense NM_001407861.1:c.3277T>C NP_001394790.1:p.Tyr1093His missense NM_001407862.1:c.3079T>C NP_001394791.1:p.Tyr1027His missense NM_001407863.1:c.3157T>C NP_001394792.1:p.Tyr1053His missense NM_001407874.1:c.3076T>C NP_001394803.1:p.Tyr1026His missense NM_001407875.1:c.3076T>C NP_001394804.1:p.Tyr1026His missense NM_001407879.1:c.3070T>C NP_001394808.1:p.Tyr1024His missense NM_001407881.1:c.3070T>C NP_001394810.1:p.Tyr1024His missense NM_001407882.1:c.3070T>C NP_001394811.1:p.Tyr1024His missense NM_001407884.1:c.3070T>C NP_001394813.1:p.Tyr1024His missense NM_001407885.1:c.3070T>C NP_001394814.1:p.Tyr1024His missense NM_001407886.1:c.3070T>C NP_001394815.1:p.Tyr1024His missense NM_001407887.1:c.3070T>C NP_001394816.1:p.Tyr1024His missense NM_001407889.1:c.3070T>C NP_001394818.1:p.Tyr1024His missense NM_001407894.1:c.3067T>C NP_001394823.1:p.Tyr1023His missense NM_001407895.1:c.3067T>C NP_001394824.1:p.Tyr1023His missense NM_001407896.1:c.3067T>C NP_001394825.1:p.Tyr1023His missense NM_001407897.1:c.3067T>C NP_001394826.1:p.Tyr1023His missense NM_001407898.1:c.3067T>C NP_001394827.1:p.Tyr1023His missense NM_001407899.1:c.3067T>C NP_001394828.1:p.Tyr1023His missense NM_001407900.1:c.3070T>C NP_001394829.1:p.Tyr1024His missense NM_001407902.1:c.3070T>C NP_001394831.1:p.Tyr1024His missense NM_001407904.1:c.3070T>C NP_001394833.1:p.Tyr1024His missense NM_001407906.1:c.3070T>C NP_001394835.1:p.Tyr1024His missense NM_001407907.1:c.3070T>C NP_001394836.1:p.Tyr1024His missense NM_001407908.1:c.3070T>C NP_001394837.1:p.Tyr1024His missense NM_001407909.1:c.3070T>C NP_001394838.1:p.Tyr1024His missense NM_001407910.1:c.3070T>C NP_001394839.1:p.Tyr1024His missense NM_001407915.1:c.3067T>C NP_001394844.1:p.Tyr1023His missense NM_001407916.1:c.3067T>C NP_001394845.1:p.Tyr1023His missense NM_001407917.1:c.3067T>C NP_001394846.1:p.Tyr1023His missense NM_001407918.1:c.3067T>C NP_001394847.1:p.Tyr1023His missense NM_001407919.1:c.3157T>C NP_001394848.1:p.Tyr1053His missense NM_001407920.1:c.3016T>C NP_001394849.1:p.Tyr1006His missense NM_001407921.1:c.3016T>C NP_001394850.1:p.Tyr1006His missense NM_001407922.1:c.3016T>C NP_001394851.1:p.Tyr1006His missense NM_001407923.1:c.3016T>C NP_001394852.1:p.Tyr1006His missense NM_001407924.1:c.3016T>C NP_001394853.1:p.Tyr1006His missense NM_001407925.1:c.3016T>C NP_001394854.1:p.Tyr1006His missense NM_001407926.1:c.3016T>C NP_001394855.1:p.Tyr1006His missense NM_001407927.1:c.3016T>C NP_001394856.1:p.Tyr1006His missense NM_001407928.1:c.3016T>C NP_001394857.1:p.Tyr1006His missense NM_001407929.1:c.3016T>C NP_001394858.1:p.Tyr1006His missense NM_001407930.1:c.3013T>C NP_001394859.1:p.Tyr1005His missense NM_001407931.1:c.3013T>C NP_001394860.1:p.Tyr1005His missense NM_001407932.1:c.3013T>C NP_001394861.1:p.Tyr1005His missense NM_001407933.1:c.3016T>C NP_001394862.1:p.Tyr1006His missense NM_001407934.1:c.3013T>C NP_001394863.1:p.Tyr1005His missense NM_001407935.1:c.3016T>C NP_001394864.1:p.Tyr1006His missense NM_001407936.1:c.3013T>C NP_001394865.1:p.Tyr1005His missense NM_001407937.1:c.3157T>C NP_001394866.1:p.Tyr1053His missense NM_001407938.1:c.3157T>C NP_001394867.1:p.Tyr1053His missense NM_001407939.1:c.3157T>C NP_001394868.1:p.Tyr1053His missense NM_001407940.1:c.3154T>C NP_001394869.1:p.Tyr1052His missense NM_001407941.1:c.3154T>C NP_001394870.1:p.Tyr1052His missense NM_001407942.1:c.3139T>C NP_001394871.1:p.Tyr1047His missense NM_001407943.1:c.3136T>C NP_001394872.1:p.Tyr1046His missense NM_001407944.1:c.3139T>C NP_001394873.1:p.Tyr1047His missense NM_001407945.1:c.3139T>C NP_001394874.1:p.Tyr1047His missense NM_001407946.1:c.2947T>C NP_001394875.1:p.Tyr983His missense NM_001407947.1:c.2947T>C NP_001394876.1:p.Tyr983His missense NM_001407948.1:c.2947T>C NP_001394877.1:p.Tyr983His missense NM_001407949.1:c.2947T>C NP_001394878.1:p.Tyr983His missense NM_001407950.1:c.2947T>C NP_001394879.1:p.Tyr983His missense NM_001407951.1:c.2947T>C NP_001394880.1:p.Tyr983His missense NM_001407952.1:c.2947T>C NP_001394881.1:p.Tyr983His missense NM_001407953.1:c.2947T>C NP_001394882.1:p.Tyr983His missense NM_001407954.1:c.2944T>C NP_001394883.1:p.Tyr982His missense NM_001407955.1:c.2944T>C NP_001394884.1:p.Tyr982His missense NM_001407956.1:c.2944T>C NP_001394885.1:p.Tyr982His missense NM_001407957.1:c.2947T>C NP_001394886.1:p.Tyr983His missense NM_001407958.1:c.2944T>C NP_001394887.1:p.Tyr982His missense NM_001407959.1:c.2899T>C NP_001394888.1:p.Tyr967His missense NM_001407960.1:c.2899T>C NP_001394889.1:p.Tyr967His missense NM_001407962.1:c.2896T>C NP_001394891.1:p.Tyr966His missense NM_001407963.1:c.2899T>C NP_001394892.1:p.Tyr967His missense NM_001407964.1:c.3136T>C NP_001394893.1:p.Tyr1046His missense NM_001407965.1:c.2776T>C NP_001394894.1:p.Tyr926His missense NM_001407966.1:c.2392T>C NP_001394895.1:p.Tyr798His missense NM_001407967.1:c.2392T>C NP_001394896.1:p.Tyr798His missense NM_001407968.1:c.788-112T>C intron variant NM_001407969.1:c.788-112T>C intron variant NM_001407970.1:c.788-1219T>C intron variant NM_001407971.1:c.788-1219T>C intron variant NM_001407972.1:c.785-1219T>C intron variant NM_001407973.1:c.788-1219T>C intron variant NM_001407974.1:c.788-1219T>C intron variant NM_001407975.1:c.788-1219T>C intron variant NM_001407976.1:c.788-1219T>C intron variant NM_001407977.1:c.788-1219T>C intron variant NM_001407978.1:c.788-1219T>C intron variant NM_001407979.1:c.788-1219T>C intron variant NM_001407980.1:c.788-1219T>C intron variant NM_001407981.1:c.788-1219T>C intron variant NM_001407982.1:c.788-1219T>C intron variant NM_001407983.1:c.788-1219T>C intron variant NM_001407984.1:c.785-1219T>C intron variant NM_001407985.1:c.785-1219T>C intron variant NM_001407986.1:c.785-1219T>C intron variant NM_001407990.1:c.788-1219T>C intron variant NM_001407991.1:c.785-1219T>C intron variant NM_001407992.1:c.785-1219T>C intron variant NM_001407993.1:c.788-1219T>C intron variant NM_001408392.1:c.785-1219T>C intron variant NM_001408396.1:c.785-1219T>C intron variant NM_001408397.1:c.785-1219T>C intron variant NM_001408398.1:c.785-1219T>C intron variant NM_001408399.1:c.785-1219T>C intron variant NM_001408400.1:c.785-1219T>C intron variant NM_001408401.1:c.785-1219T>C intron variant NM_001408402.1:c.785-1219T>C intron variant NM_001408403.1:c.788-1219T>C intron variant NM_001408404.1:c.788-1219T>C intron variant NM_001408406.1:c.791-1228T>C intron variant NM_001408407.1:c.785-1219T>C intron variant NM_001408408.1:c.779-1219T>C intron variant NM_001408409.1:c.710-1219T>C intron variant NM_001408410.1:c.647-1219T>C intron variant NM_001408411.1:c.710-1219T>C intron variant NM_001408412.1:c.710-1219T>C intron variant NM_001408413.1:c.707-1219T>C intron variant NM_001408414.1:c.710-1219T>C intron variant NM_001408415.1:c.710-1219T>C intron variant NM_001408416.1:c.707-1219T>C intron variant NM_001408418.1:c.671-1219T>C intron variant NM_001408419.1:c.671-1219T>C intron variant NM_001408420.1:c.671-1219T>C intron variant NM_001408421.1:c.668-1219T>C intron variant NM_001408422.1:c.671-1219T>C intron variant NM_001408423.1:c.671-1219T>C intron variant NM_001408424.1:c.668-1219T>C intron variant NM_001408425.1:c.665-1219T>C intron variant NM_001408426.1:c.665-1219T>C intron variant NM_001408427.1:c.665-1219T>C intron variant NM_001408428.1:c.665-1219T>C intron variant NM_001408429.1:c.665-1219T>C intron variant NM_001408430.1:c.665-1219T>C intron variant NM_001408431.1:c.668-1219T>C intron variant NM_001408432.1:c.662-1219T>C intron variant NM_001408433.1:c.662-1219T>C intron variant NM_001408434.1:c.662-1219T>C intron variant NM_001408435.1:c.662-1219T>C intron variant NM_001408436.1:c.665-1219T>C intron variant NM_001408437.1:c.665-1219T>C intron variant NM_001408438.1:c.665-1219T>C intron variant NM_001408439.1:c.665-1219T>C intron variant NM_001408440.1:c.665-1219T>C intron variant NM_001408441.1:c.665-1219T>C intron variant NM_001408442.1:c.665-1219T>C intron variant NM_001408443.1:c.665-1219T>C intron variant NM_001408444.1:c.665-1219T>C intron variant NM_001408445.1:c.662-1219T>C intron variant NM_001408446.1:c.662-1219T>C intron variant NM_001408447.1:c.662-1219T>C intron variant NM_001408448.1:c.662-1219T>C intron variant NM_001408450.1:c.662-1219T>C intron variant NM_001408451.1:c.653-1219T>C intron variant NM_001408452.1:c.647-1219T>C intron variant NM_001408453.1:c.647-1219T>C intron variant NM_001408454.1:c.647-1219T>C intron variant NM_001408455.1:c.647-1219T>C intron variant NM_001408456.1:c.647-1219T>C intron variant NM_001408457.1:c.647-1219T>C intron variant NM_001408458.1:c.647-1219T>C intron variant NM_001408459.1:c.647-1219T>C intron variant NM_001408460.1:c.647-1219T>C intron variant NM_001408461.1:c.647-1219T>C intron variant NM_001408462.1:c.644-1219T>C intron variant NM_001408463.1:c.644-1219T>C intron variant NM_001408464.1:c.644-1219T>C intron variant NM_001408465.1:c.644-1219T>C intron variant NM_001408466.1:c.647-1219T>C intron variant NM_001408467.1:c.647-1219T>C intron variant NM_001408468.1:c.644-1219T>C intron variant NM_001408469.1:c.647-1219T>C intron variant NM_001408470.1:c.644-1219T>C intron variant NM_001408472.1:c.788-1219T>C intron variant NM_001408473.1:c.785-1219T>C intron variant NM_001408474.1:c.587-1219T>C intron variant NM_001408475.1:c.584-1219T>C intron variant NM_001408476.1:c.587-1219T>C intron variant NM_001408478.1:c.578-1219T>C intron variant NM_001408479.1:c.578-1219T>C intron variant NM_001408480.1:c.578-1219T>C intron variant NM_001408481.1:c.578-1219T>C intron variant NM_001408482.1:c.578-1219T>C intron variant NM_001408483.1:c.578-1219T>C intron variant NM_001408484.1:c.578-1219T>C intron variant NM_001408485.1:c.578-1219T>C intron variant NM_001408489.1:c.578-1219T>C intron variant NM_001408490.1:c.575-1219T>C intron variant NM_001408491.1:c.575-1219T>C intron variant NM_001408492.1:c.578-1219T>C intron variant NM_001408493.1:c.575-1219T>C intron variant NM_001408494.1:c.548-1219T>C intron variant NM_001408495.1:c.545-1219T>C intron variant NM_001408496.1:c.524-1219T>C intron variant NM_001408497.1:c.524-1219T>C intron variant NM_001408498.1:c.524-1219T>C intron variant NM_001408499.1:c.524-1219T>C intron variant NM_001408500.1:c.524-1219T>C intron variant NM_001408501.1:c.524-1219T>C intron variant NM_001408502.1:c.455-1219T>C intron variant NM_001408503.1:c.521-1219T>C intron variant NM_001408504.1:c.521-1219T>C intron variant NM_001408505.1:c.521-1219T>C intron variant NM_001408506.1:c.461-1219T>C intron variant NM_001408507.1:c.461-1219T>C intron variant NM_001408508.1:c.452-1219T>C intron variant NM_001408509.1:c.452-1219T>C intron variant NM_001408510.1:c.407-1219T>C intron variant NM_001408511.1:c.404-1219T>C intron variant NM_001408512.1:c.284-1219T>C intron variant NM_001408513.1:c.578-1219T>C intron variant NM_001408514.1:c.578-1219T>C intron variant NM_007297.4:c.3139T>C NP_009228.2:p.Tyr1047His missense NM_007298.4:c.788-1219T>C intron variant NM_007299.4:c.788-1219T>C intron variant NM_007300.4:c.3280T>C NP_009231.2:p.Tyr1094His missense NR_027676.1:n.3416T>C NC_000017.11:g.43092251A>G NC_000017.10:g.41244268A>G NG_005905.2:g.125733T>C NG_087068.1:g.1233A>G LRG_292:g.125733T>C LRG_292t1:c.3280T>C LRG_292p1:p.Tyr1094His - Protein change
- Y1094H, Y1047H, Y1005H, Y1023H, Y1026H, Y1052H, Y967H, Y982H, Y1006H, Y1046H, Y1053H, Y1091H, Y798H, Y1027H, Y1093H, Y966H, Y1024H, Y1067H, Y1068H, Y926H, Y983H
- Other names
- -
- Canonical SPDI
- NC_000017.11:43092250:A:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
| LOC126862571 | - | - | - | GRCh38 | - | 1651 |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Jun 7, 2017 | RCV000507768.3 | |
| Likely benign (1) |
criteria provided, single submitter
|
Mar 23, 2023 | RCV003157614.3 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Jun 07, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600323.2
First in ClinVar: Sep 30, 2017 Last updated: Jan 01, 2022 |
|
|
|
Likely benign
(Mar 23, 2023)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003847191.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
|
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
Text-mined citations for rs1555588026 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.